ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139726696
Gene: KANSL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
950468
ClinVar RCV Id:
RCV001222184
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056258.1:p.Thr1009Pro
CA8618402
NM_015443.4:c.3025A>C